Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.730 GeneticVariation BEFREE Variant rs992157 is significantly associated with the susceptibility and progression of CRC. 30447906 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009402
Disease:
Colorectal Carcinoma
A 0.730 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.730 GeneticVariation BEFREE The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10<sup>-4</sup> ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10<sup>-9</sup> ; OR, 1.12; 95% CI, 1.08-1.16). 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009402
Disease:
Colorectal Carcinoma
A 0.730 GeneticVariation GWASCAT The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10<sup>-4</sup> ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10<sup>-9</sup> ; OR, 1.12; 95% CI, 1.08-1.16). 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.730 GeneticVariation BEFREE The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P = 3.15 × 10<sup>-8</sup>, odds ratio = 1.10, 95% confidence interval = 1.06-1.13), which is intronic to PNKD (paroxysmal non-kinesigenic dyskinesia) and TMBIM1 (transmembrane BAX inhibitor motif containing 1). 27005424 2016